Linked Data
ClinVar Variation Id:
799447
ClinVar RCV Id:
RCV000983049
dbSNP Id:
rs533763383
ExAC:
1:154961006 G / A
gnomAD v2:
1-154961006-G-A
gnomAD v3:
1-154988530-G-A
gnomAD v4:
1-154988530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154988530G>A , CM000663.2:g.154988530G>A | GRCh38 |
| NC_000001.10:g.154961006G>A , CM000663.1:g.154961006G>A | GRCh37 |
| NC_000001.9:g.153227630G>A | NCBI36 |
| NG_042310.1:g.10237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.798G>A MANE Select | ENSP00000292180.3:p.Glu266= | |
| ENST00000292180.7:c.798G>A | ENSP00000292180.3:p.Glu266= | |
| ENST00000295530.6:c.-4G>A | ENSP00000295530.2:n.-4G>A | |
| ENST00000315144.14:c.507G>A | ENSP00000317296.10:p.Glu169= | |
| ENST00000368431.7:c.501G>A | ENSP00000357416.3:p.Glu167= | |
| ENST00000368432.5:c.507G>A | ENSP00000357417.1:p.Glu169= | |
| ENST00000368433.5:c.798G>A | ENSP00000357418.1:p.Glu266= | |
| NM_001184891.1:c.507G>A | NP_001171820.1:p.Glu169= | |
| NM_001184892.1:c.501G>A | NP_001171821.1:p.Glu167= | |
| NM_025207.4:c.798G>A | NP_079483.3:p.Glu266= | |
| NM_201398.2:c.507G>A | NP_958800.1:p.Glu169= | |
| XM_005245502.2:c.507G>A | XP_005245559.1:p.Glu169= | |
| XM_005245503.2:c.-4G>A | XP_005245560.1:n.-4G>A | |
| XM_006711559.2:c.507G>A | XP_006711622.1:p.Glu169= | |
| XR_241098.3:n.716G>A | ||
| NM_025207.5:c.798G>A MANE Select | NP_079483.3:p.Glu266= | |
| NM_001184891.2:c.507G>A | NP_001171820.1:p.Glu169= | |
| NM_001184892.2:c.501G>A | NP_001171821.1:p.Glu167= | |
| NM_201398.3:c.507G>A | NP_958800.1:p.Glu169= |